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Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography.

ABSTRACT: To investigate the retinal microstructure and lamination of patients affected with X-linked retinoschisis (XLRS) using high-resolution imaging modalities.Patients diagnosed as having XLRS underwent assessment. Visual function testing included visual acuity, color vision, and full-field electroretinography. We used a high-resolution Fourier-domain optical coherence tomography (FD-OCT) system (4.5-mum axial resolution; 9 frames/s; 1000 A-scans per frame) combined with a handheld scanner. Macular image evaluation included schisis localization and retinal layer integrity.Six patients with XLRS and identified mutations in the XLRS1 gene underwent testing. Visual acuity ranged from 0.2 to 1.6 logMAR (logarithm of the minimum angle of resolution). Results of FD-OCT revealed foveal schisis extending from the outer to the inner plexiform layer in 4 of 6 patients. Bullous foveal schisis was associated with younger age. All patients showed extrafoveal schisis within the outer and inner nuclear and ganglion cell layer, alone or in combination. Photoreceptor outer and inner segment layers were disrupted and irregular in all patients.Retinal dystrophy in XLRS is reflected by morphological changes within the inner and outer retinal layers. Disturbed foveal photoreceptor integrity was identified in all patients. Retinal layer abnormalities correlated with age but did not appear to correlate with visual acuity or genotypic variation.

SUBMITTER: Gerth C

PROVIDER: S-EPMC2612690 | biostudies-literature | 2008 Jun

REPOSITORIES: biostudies-literature

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Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography.

Gerth Christina C Zawadzki Robert J RJ Werner John S JS Héon Elise E

Archives of ophthalmology (Chicago, Ill. : 1960) 20080601 6

<h4>Objective</h4>To investigate the retinal microstructure and lamination of patients affected with X-linked retinoschisis (XLRS) using high-resolution imaging modalities.<h4>Methods</h4>Patients diagnosed as having XLRS underwent assessment. Visual function testing included visual acuity, color vision, and full-field electroretinography. We used a high-resolution Fourier-domain optical coherence tomography (FD-OCT) system (4.5-mum axial resolution; 9 frames/s; 1000 A-scans per frame) combined ...[more]

PMID: 18541843

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Project description:PurposeTo evaluate macular and extramacular retinal anatomy in patients and carriers of X-linked retinoschisis (XLRS) using a wide-field spectral-domain optical coherence tomography (SD-OCT) imaging technique.DesignCase series.ParticipantsSix XLRS-affected male subjects and 3 XLRS female carriers.MethodsThe subjects prospectively underwent XLRS DNA genotyping and comprehensive ophthalmic examination, including visual acuity, 30-2 Humphrey visual field, fundus photography, and wide-field SD-OCT, a montage technique to generate SD-OCT images spanning approximately 50 degrees horizontally and 35 degrees vertically of the posterior pole.Main outcome measuresDistribution and location of schisis cavities.ResultsAmong male subjects affected by XLRS, asymmetric bilateral schisis was seen in all eyes imaged with montage SD-OCT (11 eyes). Wide-field OCT images demonstrated schisis cavities only in the central macula in 6 eyes (55%), throughout the macula extending to the outside of the temporal arcades in 3 eyes (27%), and throughout the macula extending nasal to the optic nerve in 2 eyes (18%). Cystoid spaces accounting for macular splitting were present in the inner nuclear layer (INL) in all 11 eyes and in the outer nuclear layer (ONL) in 4 eyes. A few small cysts were seen parafoveally in the ganglion cell layer (GCL) or nerve fiber layer (NFL) in 4 eyes. Subclinical extramacular schisis spaces were seen (n=5 eyes) within the INL in 1 eye, the ONL in 1 eye, the INL/GCL/NFL in 1 eye, the ONL/GCL/NFL in 1 eye, and the INL/ONL/GCL/NFL in 1 eye. Schisis was rarely seen nasal to the optic nerve (2 eyes). Central/paracentral visual field defects were seen in 9 eyes. Female carriers did not show schisis on examination or OCT.ConclusionsWide-field SD-OCT is a useful tool for evaluating complex retinal anatomy. In patients with XLRS, the foveomacular schisis was seen most frequently in the INL. Subclinical extramacular schisis was seen in 45% of eyes and was equally prevalent in the INL, ONL, and GCL/FNL. The GCL/FNL cystoid spaces were small and seen near the fovea and the arcades only. Carriers were schisis-free.Financial disclosure(s)The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Project description:ImportanceProgression of retinopathy of prematurity (ROP) to stage 4 may require surgical intervention. The partial retinal detachment of stage 4 ROP may involve the fovea (stage 4B ROP) or may not (stage 4A ROP). This determination has heretofore been based on indirect ophthalmoscopy and documented with color fundus photography.ObjectiveTo investigate optical coherence tomography (OCT) features of eyes with stage 4 ROP and compare them with indirect ophthalmoscopy findings and grading of photographs.Design, setting, and participantsIn this study, research and clinical medical records of 15 infants with clinically diagnosed stage 4 ROP were retrospectively reviewed. Infants were treated at an academic center from May 2011 to January 2018.Main outcomes and measuresReview of OCT images for the presence and foveal involvement of retinoschisis, retinal detachment, and/or vitreomacular traction masked to indirect ophthalmoscopy findings.ResultsOf the 15 included infants, 9 (60%) were male, the mean (SD) gestational age at birth was 23.9 (1.1) weeks, and the mean (SD) postmenstrual age at surgery was 42.4 (4.9) weeks. A total of 21 eyes were analyzed, of which 19 had adequate OCT imaging. Optical coherence tomography imaging extended to the retinal midperiphery but did not cover the entire region of possible detachment in each eye. Among these eyes, 7 eyes had peripheral retinoschisis without retinal detachment or foveal involvement, 5 eyes had peripheral retinoschisis and retinal detachment without foveal involvement, 7 eyes had either retinoschisis or retinal detachment involving the fovea, and 2 eyes had poor OCT signal owing to high retinal detachment.Conclusions and relevanceHandheld OCT imaging is useful in clinical evaluation of stage 4 ROP to determine foveal involvement and differentiate retinal detachment and retinoschisis. Many infants diagnosed as having stage 4A ROP had retinoschisis without OCT evidence of retinal detachment. This group of infants may represent a substage of stage 4A ROP, ie, stage 4A-schisis by OCT. These findings suggest handheld OCT imaging may be useful in the clinical evaluation of stage 4 ROP. Further investigations are needed to determine if this subgroup portends a different prognosis and if this observation should alter future clinical practice.

Dataset Information

Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography.

Publications

Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography.

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